AP1S2

Description

The AP1S2 (adaptor related protein complex 1 subunit sigma 2) is a protein-coding gene located on chromosome X.

AP1S2, encoded by the AP1S2 gene, is a protein that serves as the small subunit of adaptor protein complex 1 (AP-1). AP-1 is found at the cytoplasmic face of coated vesicles in the Golgi complex and is crucial for clathrin recruitment to the membrane and the recognition of sorting signals in transmembrane receptors. This complex is a heterotetramer with two large, one medium, and one small adaptin subunit. AP1S2 is part of the adaptin protein family and has transcript variants due to alternative polyadenylation signals. Mutations in the AP1S2 gene cause Pettigrew syndrome, characterized by intellectual disability and variable features like choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain.

AP1S2 is a subunit of the clathrin-associated adaptor protein complex 1 (AP-1). It plays a crucial role in protein sorting within the late Golgi/trans-Golgi network (TGN) and/or endosomes. AP complexes are responsible for recruiting clathrin to membranes and recognizing sorting signals in the cytosolic tails of transmembrane cargo molecules.

AP1S2 is also known as DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B.

Associated Diseases

• X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
• X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
• Pettigrew syndrome
• Fried syndrome